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Giuseppe De Michele

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Anna De Rosa; Luigi Del Gaudio; Anna Guacci; Marco Massarelli; Silvio Peluso; Stefano Barbato; Chiara Criscuolo; Giuseppe De Michele
A case of restless leg syndrome in a family with LRRK2 gene mutation.
Francesco Saccà; Filippo M Santorelli; Pasquale Scoppettuolo; Alessandra Tessa; Antonella Antenora; Vincenzo Brescia Morra; Giuseppe De Michele; Angela Marsili; Claudia Nesti; Chiara Pane; Giorgia Puorro; Alessandro Filla
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
Francesco Saccà; Elena Salvatore; Tecla Tucci; Vincenzo Brescia Morra; Arturo Brunetti; Rosa Carbone; Giuseppe De Michele; Angela Marsili; Chiara Pane; Giorgia Puorro; Mario Quarantelli; Cinzia Valeria Russo; Alessandro Filla
A randomized clinical trial of lithium in multiple system atrophy.

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All Publications

2013: Anna De Rosa; Luigi Del Gaudio; Anna Guacci; Marco Massarelli; Silvio Peluso; Stefano Barbato; Chiara Criscuolo; Giuseppe De Michele
A case of restless leg syndrome in a family with LRRK2 gene mutation.
The International journal of neuroscience 2013;123(4):283-5.
2013: Francesco Saccà; Filippo M Santorelli; Pasquale Scoppettuolo; Alessandra Tessa; Antonella Antenora; Vincenzo Brescia Morra; Giuseppe De Michele; Angela Marsili; Claudia Nesti; Chiara Pane; Giorgia Puorro; Alessandro Filla
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
Journal of neurology 2013;260(4):1116-21.
2013: Francesco Saccà; Elena Salvatore; Tecla Tucci; Vincenzo Brescia Morra; Arturo Brunetti; Rosa Carbone; Giuseppe De Michele; Angela Marsili; Chiara Pane; Giorgia Puorro; Mario Quarantelli; Cinzia Valeria Russo; Alessandro Filla
A randomized clinical trial of lithium in multiple system atrophy.
Journal of neurology 2013;260(2):458-61.
2013: Maria Teresa Pellecchia; Marina Picillo; Claudia Pivonello; Rosario Pivonello; Gabriella Santangelo; Lucio Santoro; Carmine Vitale; Annamaria Colao; Giuseppe De Michele; Anna De Rosa; Roberto Erro; Katia Longo; Marcello Moccia; Marianna Amboni; Paolo Barone
Serum epidermal growth factor predicts cognitive functions in early, drug-naive Parkinson's disease patients.
Journal of neurology 2013;260(2):438-44.
2013: Roberto Erro; Flavio Giordano; Katia Longo; Marcello Moccia; Maria Teresa Pellecchia; Marina Picillo; Carmine Vitale; Marianna Amboni; Autilia Cozzolino; Giuseppe De Michele; Anna De Rosa; Paolo Barone
Non-motor symptoms in early Parkinson's disease: a 2-year follow-up study on previously untreated patients.
Journal of neurology, neurosurgery, and psychiatry 2013;84(1):14-7.
2012: Anna De Rosa; Maria Lieto; Vincenzo Palma; Mario Quarantelli; Fabiana Rossi; Roberto Bruno; Amalia De Renzo; Giuseppe De Michele
Subacute combined degeneration of the spinal cord in a vegan.
Clinical neurology and neurosurgery 2012;114(7):1000-2.
2012: Roberto Erro; Katia Longo; Maria Teresa Pellecchia; Marina Picillo; Gabriella Santangelo; Lucio Santoro; Carmine Vitale; Roberto Allocca; Marianna Amboni; Angela Costagliola; Giuseppe De Michele; Anna De Rosa; Paolo Barone
Link between non-motor symptoms and cognitive dysfunctions in de novo, drug-naive PD patients.
Journal of neurology 2012;259(9):1808-13.
2012: Silvio Peluso; Alessandro Roca; Vincenzo Brescia Morra; Antonella Antenora; Anna De Rosa; Gennaro Maddaluno; Giuseppe De Michele
Antiphospholipid-related chorea.
Frontiers in neurology 2012;3():150.
2012: Carlo Rinaldi; Fabiana Rossi; Elena Salvatore; Tecla Tucci; Imma Castaldo; Valeria Russo Cinzia; Sara De Matteis; Luigi Di Maio; Alessandro Filla; Ilaria Giordano; V Brescia Morra; Giuseppe De Michele
Predictors of survival in a Huntington's disease population from southern Italy.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2012;39(1):48-51.
2011: A De Rosa; A Faggiano; V Brescia Morra; Sabina Pappatà; C Rinaldi; F Rossi; T Tucci; A Colao; Giuseppe De Michele
Co-existence of primary hyperparathyroidism and Parkinson's disease in three patients: an incidental finding?
Parkinsonism & related disorders 2011;17(10):771-3.
2011: Sabina Pappatà; Maria Teresa Pellecchia; Marco Salvatore; Gabriella Santangelo; C Vicidomini; Carmine Vitale; Kolbjorn Bronnick; Arturo Brunetti; M G Caprio; Giuseppe De Michele; R Erro; Katia Longo; Dag Aarsland; Marianna Amboni; Paolo Barone
Mild cognitive impairment in drug-naive patients with PD is associated with cerebral hypometabolism.
Neurology 2011;77(14):1357-62.
2011: Chiara Criscuolo; Vincenzo Bonifati; Guido J Breedveld; Anna De Rosa; Alessandro Filla; Anna Guacci; Ben A Oostra; Silvio Peluso; Erik J Simons; Giampiero Volpe; Giuseppe De Michele
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy.
Movement disorders : official journal of the Movement Disorder Society 2011;26(9):1733-6.
2011: Maria Teresa Pellecchia; Marina Picillo; Elena Salvatore; Marco Salvatore; Caterina Vicidomini; Paolo Barone; Arturo Brunetti; Giuseppe De Michele; Alessandro Filla; Marta Ianniciello; Raffaele Liuzzi; Katia Longo; Carmine Mollica; Sabina Pappatà
Progression of striatal and extrastriatal degeneration in multiple system atrophy: a longitudinal diffusion-weighted MR study.
Movement disorders : official journal of the Movement Disorder Society 2011;26(7):1303-9.
2011: Elena Salvatore; Carlo Rinaldi; Tecla Tucci; Luigi Di Maio; Carolina Di Somma; Silvia Savastano; Gaetano Lombardi; Alessandro Filla; Annamaria Colao; Giuseppe De Michele
Growth hormone response to arginine test differentiates between two subgroups of Huntington's disease patients.
Journal of neurology, neurosurgery, and psychiatry 2011;82(5):543-7.
2011: Francesco Saccà; Raffaele Piro; Giuseppe De Michele; Fabio Acquaviva; Antonella Antenora; Guido Carlomagno; Sergio Cocozza; Alessandra Denaro; Anna Guacci; Angela Marsili; Gaetano Perrotta; Giorgia Puorro; Antonio Cittadini; Alessandro Filla
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.
Movement disorders : official journal of the Movement Disorder Society 2011;26(4):739-42.
2011: Anna Perretti; Anna De Rosa; Lucia Marcantonio; Valeria Iodice; Anna Estraneo; Fiore Manganelli; Barbara Garavaglia; Alessandro Filla; Lucio Santoro; Giuseppe De Michele
Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson's disease.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2011;122(3):546-9.
2011: Francesco Saccà; Giorgia Puorro; Antonella Antenora; Angela Marsili; Alessandra Denaro; Raffaele Piro; Pierpaolo Sorrentino; Chiara Pane; Alessandra Tessa; Vincenzo Brescia Morra; Sergio Cocozza; Giuseppe De Michele; Filippo M Santorelli; Alessandro Filla
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
PloS one 2011;6(3):e17627.
2010: Chiara Criscuolo; M F de Leva; Paolo Sorrentino; R Piro; R Carbone; A Guacci; Giuseppe De Michele; Alessandro Filla
PRICKLE1 progressive myoclonus epilepsy in Southern Italy.
Movement disorders : official journal of the Movement Disorder Society 2010;25(15):2686-7.
2010: Elena Salvatore; Luigi Di Maio; Alessandro Filla; Alfonso M Ferrara; Carlo Rinaldi; Francesco Saccà; Silvio Peluso; Paolo Emidio Macchia; Sabina Pappatà; Giuseppe De Michele
Benign hereditary chorea: clinical and neuroimaging features in an Italian family.
Movement disorders : official journal of the Movement Disorder Society 2010;25(10):1491-6.
2010: Maria Fulvia de Leva; Alessandro Filla; Chiara Criscuolo; Alessandra Tessa; Sabina Pappatà; Mario Quarantelli; Leonilda Bilo; Silvio Peluso; Antonella Antenora; Dario Longo; Filippo M Santorelli; Giuseppe De Michele
Complex phenotype in an Italian family with a novel mutation in SPG3A.
Journal of neurology 2010;257(3):328-31.
2009: C Rinaldi; T Tucci; Sabatino Maione; Anna Giunta; Giuseppe De Michele; Alessandro Filla
Low-dose idebenone treatment in Friedreich's ataxia with and without cardiac hypertrophy.
Journal of neurology 2009;256(9):1434-7.
2009: Chiara Criscuolo; Alessandro Filla; Giangennaro Coppola; Carlo Rinaldi; Rosa Carbone; Stefano Pinto; Qing Wang; Maria Fulvia de Leva; Elena Salvatore; Sandro Banfi; Arturo Brunetti; Mario Quarantelli; Daniel Geschwind; Sabina Pappatà; Giuseppe De Michele
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
Journal of neurology 2009;256(8):1252-7.
2009: Carlo Rinaldi; Cinzia Valeria Russo; Alessandro Filla; Giuseppe De Michele; Enrico Marano
Course and outcome of a voltage-gated potassium channel antibody negative Morvan's syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2009;30(3):237-9.
2009: Maria Teresa Pellecchia; Paolo Barone; Carmine Mollica; Elena Salvatore; Marta Ianniciello; Katia Longo; Andrea Varrone; Caterina Vicidomini; Marina Picillo; Giuseppe De Michele; Alessandro Filla; Marco Salvatore; Sabina Pappatà
Diffusion-weighted imaging in multiple system atrophy: a comparison between clinical subtypes.
Movement disorders : official journal of the Movement Disorder Society 2009;24(5):689-96.
2009: Anna De Rosa; Chiara Criscuolo; Pietro Mancini; Marina De Martino; Ilaria Anna Giordano; Sabina Pappatà; Alessandro Filla; Giuseppe De Michele
Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy.
Parkinsonism & related disorders 2009;15(3):242-4.
2008: Claudia Piccoli; Annamaria Sardanelli; Rosella Scrima; Maria Ripoli; Giovanni Quarato; Annamaria D'Aprile; Francesco Bellomo; Salvatore Scacco; Giuseppe De Michele; Alessandro Filla; Arcangela Iuso; Domenico Boffoli; Nazzareno Capitanio; Sergio Papa
Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation.
Neurochemical research 2008;33(12):2565-74.
2008: Riccardo Della Nave; Andrea Ginestroni; Carlo Tessa; Elisabetta Salvatore; Domenico De Grandis; Rosaria Plasmati; Fabrizio Salvi; Giuseppe De Michele; Maria Teresa Dotti; Silvia Piacentini; Mario Mascalchi
Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics.
NeuroImage 2008;43(1):10-9.
2008: Alfonso Massimiliano Ferrara; Giuseppe De Michele; Elena Salvatore; Luigi Di Maio; Emilia Zampella; Serena Capuano; Giuseppina Del Prete; Giuseppina Rossi; Gianfranco Fenzi; Alessandro Filla; Paolo Emidio Macchia
A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.
Thyroid : official journal of the American Thyroid Association 2008;18(9):1005-9.
2008: Andrea Varrone; Valeria Sansone; Maria Teresa Pellecchia; Marianna Amboni; Elena Salvatore; Giuseppe De Michele; Alessandro Filla; Paolo Barone; Sabina Pappatà; Marco Salvatore
Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [123I]FP-CIT.
European journal of nuclear medicine and molecular imaging 2008;35(7):1343-9.
2008: Riccardo Della Nave; Andrea Ginestroni; Carlo Tessa; Mirco Cosottini; Marco Giannelli; Elena Salvatore; Ferdinando Sartucci; Giuseppe De Michele; Maria Teresa Dotti; Silvia Piacentini; Mario Mascalchi
Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study.
Movement disorders : official journal of the Movement Disorder Society 2008;23(6):899-903.
2008: Chiara Criscuolo; Pietro Mancini; S Ammendola; D Cicala; S Banfi; Giuseppe De Michele; Alessandro Filla
Screening for POLG1 mutations in a Southern Italian ataxia population.
Journal of neurology 2008;255(3):454-5.
2008: Elena Salvatore; Andrea Varrone; Chiara Criscuolo; Pietro Mancini; Valeria Sansone; Caterina Strisciuglio; Domenico Cicala; Valentina Scarano; Marco Salvatore; Sabina Pappatà; Giuseppe De Michele; Alessandro Filla
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
Journal of neurology 2008;255(1):45-8.
2007: Carmine Vitale; Stefano Marconi; Luigi Di Maio; Giuseppe De Michele; Katia Longo; Vincenzo Bonavita; Paolo Barone
Short-term continuous infusion of apomorphine hydrochloride for treatment of Huntington's chorea: A double blind, randomized cross-over trial.
Movement disorders : official journal of the Movement Disorder Society 2007;22(16):2359-64.
2007: Maria Fulvia de Leva; Andrea Varrone; Alessandro Filla; Mario Quarantelli; Leonilda Bilo; Valeria Piscitelli; Elena Salvatore; Sara Ammendola; Salvatore Striano; Giuseppe De Michele; Vincenzo Bonavita; Sabina Pappatà
Neuroimaging follow-up in a case of Rasmussen's encephalitis with dyskinesias.
Movement disorders : official journal of the Movement Disorder Society 2007;22(14):2117-21.
2007: Anna De Rosa; Carla Carducci; Italo Antonozzi; Teresa Giovanniello; Evgjeni Xhoxhi; Chiara Criscuolo; Valeria Menchise; Salvatore Striano; Alessandro Filla; Giuseppe De Michele
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
Journal of neurology 2007;254(8):1133-4.
2007: Andrea Varrone; Marco Pagani; Elena Salvatore; Dario Salmaso; Valeria Sansone; Marianna Amboni; Flavio Nobili; Giuseppe De Michele; Alessandro Filla; Paolo Barone; Sabina Pappatà; Marco Salvatore
Identification by [99mTc]ECD SPECT of anterior cingulate hypoperfusion in progressive supranuclear palsy, in comparison with Parkinson's disease.
European journal of nuclear medicine and molecular imaging 2007;34(7):1071-81.
2006: Giangennaro Coppola; Roberta Lanzillo; Ciro Florio; Giuseppe Orefice; P Vivo; S Ascione; Vittorio Schiavone; A Pagano; Giovanni Vacca; Giuseppe De Michele; V Brescia Morra
Long-term clinical experience with weekly interferon beta-1a in relapsing multiple sclerosis.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2006;13(9):1014-21.
2006: Chiara Criscuolo; Giampiero Volpe; Anna De Rosa; Andrea Varrone; Roberta Marongiu; Pietro Mancini; Elena Salvatore; Bruno Dallapiccola; Alessandro Filla; Enza Maria Valente; Giuseppe De Michele
PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2006;21(8):1265-7.
2006: Manu Sharma; Jakob C Mueller; Alexander Zimprich; Peter Lichtner; Anne Hofer; Petra Leitner; Sylvia Maass; Daniela Berg; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; B Oostra; Alexis Brice; Nicholas W Wood; Bertram Muller-Myhsok; Thomas Gasser
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Journal of medical genetics 2006;43(7):557-62.
2006: Elena Salvatore; Andrea Varrone; Valeria Sansone; Maria Nolano; Amalia C Bruni; Anna De Rosa; Lucio Santoro; Sabina Pappatà; Alessandro Filla; Giuseppe De Michele
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17.
Movement disorders : official journal of the Movement Disorder Society 2006;21(6):872-5.
2006: Luigi Di Maio; Marcelli Vincenzo; Carmine Vitale; M Menzione; A De Giorgio; F Briganti; Anna Perretti; Elio Marciano; Alessandro Filla; Giuseppe De Michele
Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2006;33(2):237-9.
2006: Chiara Criscuolo; Luciana Chessa; Silvia Di Giandomenico; Pietro Mancini; Francesco Saccà; Gabriella Grieco; Maria Piane; Fabrizio Barbieri; Giuseppe De Michele; Sandro Banfi; Francesco Pierelli; N Rizzuto; Filippo M Santorelli; L Gallosti; Alessandro Filla; Carlo Casali
Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
Neurology 2006;66(8):1207-10.
2006: Fiore Manganelli; Anna Perretti; Maria Nolano; Bernardo Lanzillo; Amalia C Bruni; Giuseppe De Michele; Alessandro Filla; Lucio Santoro
Electrophysiologic characterization in spinocerebellar ataxia 17.
Neurology 2006;66(6):932-4.
2006: Anna De Rosa; Giampiero Volpe; Lucia Marcantonio; Lucio Santoro; Alexis Brice; Alessandro Filla; Anna Perretti; Giuseppe De Michele
Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.
Journal of neurology 2006;253(3):275-9.
2006: Pablo Ibáñez; Suzanne Lesage; Ebba Lohmann; Stéphane Thobois; Giuseppe De Michele; Michel Borg; Yves Agid; Alexandra Dürr; Alexis Brice
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.
Brain : a journal of neurology 2006;129(Pt 3):686-94.
2006: Anna De Rosa; Pasquale Striano; Fabrizio Barbieri; Antonietta De Falco; Carlo Rinaldi; Tecla Tucci; Salvatore Striano; Alessandro Filla; Giuseppe De Michele
Suppression of myoclonus in SCA2 by piracetam.
Movement disorders : official journal of the Movement Disorder Society 2006;21(1):116-8.
2005: Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre Combarros; Jon Infante; Antonio Garcia; Sandro Banfi; Alessandro Filla; José Berciano
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
Movement disorders : official journal of the Movement Disorder Society 2005;20(10):1358-61.
2005: Giangennaro Coppola; Chiara Criscuolo; Giuseppe De Michele; Salvatore Striano; Fabrizio Barbieri; Pasquale Striano; Anna Perretti; Lucio Santoro; Vincenzo Brescia Morra; Francesco Saccà; Valentina Scarano; Adamo P D'Adamo; Sandro Banfi; Paolo Gasparini; Filippo M Santorelli; Anna E Lehesjoki; Alessandro Filla
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Journal of neurology 2005;252(8):897-900.
2005: Valentina Scarano; Pietro Mancini; Chiara Criscuolo; Giuseppe De Michele; Carlo Rinaldi; Tecla Tucci; Alessandra Tessa; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Alessandro Filla
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Journal of neurology 2005;252(8):901-3.
2005: Maria Martinez; Alexis Brice; Jenny R Vaughan; Alexander Zimprich; Monique Breteler; Giuseppe Meco; Alessandro Filla; Matthew J Farrer; Christine Bétard; Andrew Singleton; John Hardy; Giuseppe De Michele; Vincenzo Bonifati; Ben A Oostra; Thomas Gasser; Nicholas W Wood; Alexandra Dürr
Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;136B(1):72-4.
2005: Chiara Criscuolo; Pietro Mancini; Valeria Menchise; Francesco Saccà; Giuseppe De Michele; Sandro Banfi; Alessandro Filla
Very late onset in ataxia oculomotor apraxia type I.
Annals of neurology 2005;57(5):777.
2005: Clarice Patrono; Valentina Scarano; Federica Cricchi; Mariarosa AD Melone; Maria Chiriaco; Alessandro Napolitano; Alessandro Malandrini; Giuseppe De Michele; Lucia Petrozzi; Carlo Giraldi; Lucio Santoro; Serenella Servidei; Carlo Casali; Alessandro Filla; Filippo M Santorelli
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Human mutation 2005;25(5):506.
2005: Maria Teresa Pellecchia; Rosario Pivonello; Elena Salvatore; Antongiulio Faggiano; Paolo Barone; Giuseppe De Michele; Gaetano Lombardi; Annamaria Colao; Alessandro Filla
Growth hormone response to arginine test distinguishes multiple system atrophy from Parkinson's disease and idiopathic late-onset cerebellar ataxia.
Clinical endocrinology 2005;62(4):428-33.
2005: Jürgen Prestel; Manu Sharma; Petra Leitner; Alexander Zimprich; Jenny R Vaughan; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; Hasmet Hanagasi; Matthew J Farrer; Anne Hofer; Friedrich Asmus; Giampiero Volpe; Giuseppe Meco; Alexis Brice; Nicholas W Wood; Bertram Müller-Myhsok; Thomas Gasser
PARK11 is not linked with Parkinson's disease in European families.
European journal of human genetics : EJHG 2005;13(2):193-7.
2005: Nicola Vanacore; Vincenzo Bonifati; Giovanni Fabbrini; Carlo Colosimo; Giuseppe De Michele; Roberto Marconi; Fabrizio Stocchi; David Nicholl; Ubaldo Bonuccelli; Michele De Mari; Peter Vieregge; Giuseppe Meco
Case-control study of multiple system atrophy.
Movement disorders : official journal of the Movement Disorder Society 2005;20(2):158-63.
2004: Chiara Criscuolo; Pietro Mancini; Francesco Saccà; Giuseppe De Michele; Antonella Monticelli; Lucio Santoro; Valentina Scarano; Sandro Banfi; Alessandro Filla
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype.
Neurology 2004;63(11):2173-5.
2004: Andrea Varrone; Maria Teresa Pellecchia; Marianna Amboni; Valeria Sansone; Elena Salvatore; Daniele Ghezzi; Barbara Garavaglia; Alexis Brice; Arturo Brunetti; Vincenzo Bonavita; Giuseppe De Michele; Marco Salvatore; Sabina Pappatà; Paolo Barone
Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease.
Neurology 2004;63(11):2097-103.
2004: Maria Martinez; Alexis Brice; Jenny R Vaughan; Alexander Zimprich; Monique Breteler; Giuseppe Meco; Alessandro Filla; Matthew J Farrer; Christine Bétard; John Hardy; Giuseppe De Michele; Vincenzo Bonifati; Ben A Oostra; Thomas Gasser; Nicholas W Wood; Alexandra Dürr
Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease.
Journal of medical genetics 2004;41(12):900-7.
2004: Giuseppe De Michele; Giangennaro Coppola; Sergio Cocozza; Alessandro Filla
A pathogenetic classification of hereditary ataxias: is the time ripe?
Journal of neurology 2004;251(8):913-22.
2004: Amalia C Bruni; Junko Takahashi-Fujigasaki; Francesca Maltecca; Jean Francois Foncin; Antonio Servadio; Giorgio Casari; Pio D'Adamo; Raffaele Maletta; S A M Curcio; Giuseppe De Michele; Alessandro Filla; Khalid H El Hachimi; Charles Duyckaerts
Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.
Archives of neurology 2004;61(8):1314-20.
2004: Manuela Giacchetti; Antonella Monticelli; Irene De Biase; Luigi Pianese; Mimmo Turano; Alessandro Filla; Giuseppe De Michele; Sergio Cocozza
Mitochondrial DNA haplogroups influence the Friedreich's ataxia phenotype.
Journal of medical genetics 2004;41(4):293-5.
2004: V Brescia Morra; Giangennaro Coppola; Giuseppe Orefice; Giuseppe De Michele; Giovanni Vacca; Alessandro Filla; Vincenzo Bonavita
Interferon-beta treatment decreases cholesterol plasma levels in multiple sclerosis patients.
Neurology 2004;62(5):829-30.
2004: Andrea Varrone; Elena Salvatore; Giuseppe De Michele; Paolo Barone; Valeria Sansone; Maria Teresa Pellecchia; Imma Castaldo; Giangennaro Coppola; Arturo Brunetti; Marco Salvatore; Sabina Pappatà; Alessandro Filla
Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism.
Annals of neurology 2004;55(3):426-30.
2004: Maria Muglia; Chiara Criscuolo; Angela Magariello; Giuseppe De Michele; Valentina Scarano; P D'Adamo; G Ambrosio; Anna Lia Gabriele; Alessandra Patitucci; Rosalucia Mazzei; Francesca Luisa Conforti; Teresa Sprovieri; Letterio Morgante; Antonio Epifanio; Paolino La Spina; Paola Valentino; Paolo Gasparini; Alessandro Filla; Aldo Quattrone
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Neurogenetics 2004;5(1):49-54.
2004: Carlo Casali; Enza Maria Valente; Enrico Bertini; G Montagna; Chiara Criscuolo; Giuseppe De Michele; Marcello Villanova; Maria Damiano; Alberto Pierallini; Francesco Brancati; Valentina Scarano; Alessandra Tessa; Federica Cricchi; Gabriella Grieco; Maria Muglia; M Carella; B Martini; A Rossi; Giuseppe Amabile; Giuseppe Nappi; Alessandro Filla; Bruno Dallapiccola; Filippo M Santorelli
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum.
Neurology 2004;62(2):262-8.
2004: Chiara Criscuolo; Sandro Banfi; Marcello Orio; Paolo Gasparini; Antonella Monticelli; Valentina Scarano; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Giuseppe De Michele; Alessandro Filla
A novel mutation in SACS gene in a family from southern Italy.
Neurology 2004;62(1):100-2.
2003: Francesca Maltecca; Alessandro Filla; Imma Castaldo; Giangennaro Coppola; N A Fragassi; M Carella; Amalia C Bruni; Sergio Cocozza; Giorgio Casari; Antonio Servadio; Giuseppe De Michele
Intergenerational instability and marked anticipation in SCA-17.
Neurology 2003;61(10):1441-3.
2003: Pablo Ibáñez; Giuseppe De Michele; Vincenzo Bonifati; Ebba Lohmann; Stéphane Thobois; Pierre Pollak; Yves Agid; Peter Heutink; Alexandra Dürr; Alexis Brice
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism.
Neurology 2003;61(10):1429-31.
2003: Giuseppe De Michele; Francesca Maltecca; M Carella; Giampiero Volpe; Marcello Orio; Antonietta De Falco; S Gombia; Antonio Servadio; Giorgio Casari; Alessandro Filla; Amalia C Bruni
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2003;24(3):166-7.
2003: Paola Giuliano; Tiziana de Cristofaro; Adelina Affaitati; Grazia M Pizzulo; Antonio Feliciello; Chiara Criscuolo; Giuseppe De Michele; Alessandro Filla; enrico vittorio avvedimento; Stelio Varrone
DNA damage induced by polyglutamine-expanded proteins.
Human molecular genetics 2003;12(18):2301-9.
2003: Giuseppe De Michele; Maurizio Pocchiari; Rossella Petraroli; Mario Manfredi; Giorgio Caneve; Giangennaro Coppola; Carlo Casali; Francesco Saccà; Pedro Piccardo; Elena Salvatore; Alfredo Berardelli; Marcello Orio; Fabrizio Barbieri; Bernardino Ghetti; Alessandro Filla
Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2003;30(3):233-6.
2003: Ebba Lohmann; Magali Periquet; Vincenzo Bonifati; Nicholas W Wood; Giuseppe De Michele; Anne-Marie Bonnet; Valérie Fraix; Emmanuel Broussolle; Martin Horstink; Marie Vidailhet; Patrice Verpillat; Thomas Gasser; David Nicholl; Hélio A G Teive; Salmo Raskin; Olivier Rascol; Alain Destée; Merle Ruberg; Francesca Gasparini; Giuseppe Meco; Yves Agid; Alexandra Durr; Alexis Brice
How much phenotypic variation can be attributed to parkin genotype?
Annals of neurology 2003;54(2):176-85.
2003: Magali Periquet; Morwena Latouche; Ebba Lohmann; Nina Rawal; Giuseppe De Michele; Sylvain Ricard; Hélio A G Teive; Valérie Fraix; Marie Vidailhet; David Nicholl; Paolo Barone; Nicholas W Wood; Salmo Raskin; Jean-François Deleuze; Yves Agid; Alexandra Dürr; Alexis Brice
Parkin mutations are frequent in patients with isolated early-onset parkinsonism.
Brain : a journal of neurology 2003;126(Pt 6):1271-8.
2003: Nina Rawal; Magali Periquet; Ebba Lohmann; Christoph B Lücking; Hélio A G Teive; G Ambrosio; Salmo Raskin; Sarah J Lincoln; Nobutaka Hattori; Joao Guimaraes; Martin Horstink; W Dos Santos Bele; E Brousolle; Alain Destée; Yoshikuni Mizuno; Matthew J Farrer; Jean-François Deleuze; Giuseppe De Michele; Yves Agid; Alexandra Dürr; Alexis Brice
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Neurology 2003;60(8):1378-81.
2003: Roberto Marconi; Maurizio De Fusco; paolo aridon; Katrin Plewnia; Maja Rossi; Sadia Carapelli; Andrea Ballabio; Letterio Morgante; Rosa Musolino; Antonio Epifanio; Giuseppe Micieli; Giuseppe De Michele; Giorgio Casari
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.
Annals of neurology 2003;53(3):376-81.
2002: Maria Teresa Pellecchia; G Ambrosio; Elena Salvatore; Carmine Vitale; Giuseppe De Michele; Paolo Barone
Possible gluten sensitivity in multiple system atrophy.
Neurology 2002;59(7):1114-5.
2002: Enza Maria Valente; Francesco Brancati; Viviana Caputo; E A Graham; Mary B Davis; Alessandro Ferraris; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6 is a common cause of familial parkinsonism.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2002;23 Suppl 2():S117-8.
2002: Nina Rawal; Magali Periquet; Alexandra Dürr; Giuseppe De Michele; Vincenzo Bonifati; Hélio A G Teive; Salmo Raskin; Joao Guimaraes; Yves Agid; Alexis Brice
Exclusion of the Nurr1 gene in autosomal recessive Parkinson's disease.
Journal of neurology 2002;249(8):1127-9.
2002: Giulio Cicarelli; Maria Teresa Pellecchia; Giuseppe De Michele; Gilberto Pizzolato; Paolo Barone
Paradoxical response to apomorphine in a case of atypical parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2002;17(3):604-6.
2002: Alessandro Filla; Giuseppe De Michele; Sergio Cocozza; A Patrignani; Giampiero Volpe; Imma Castaldo; G Ruggiero; Vincenzo Bonavita; Colin L Masters; Giorgio Casari; Amalia C Bruni
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.
Neurology 2002;58(6):922-8.
2002: Enza Maria Valente; Francesco Brancati; Alessandro Ferraris; Elizabeth A Graham; Mary B Davis; Monique Breteler; Thomas Gasser; Vincenzo Bonifati; Anna Rita Bentivoglio; Giuseppe De Michele; Alexandra Dürr; Pietro Cortelli; Dietmar Wassilowsky; Biswadjiet S Harhangi; Nina Rawal; Viviana Caputo; Alessandro Filla; Giuseppe Meco; Ben A Oostra; Alexis Brice; Alberto Albanese; Bruno Dallapiccola; Nicholas W Wood
PARK6-linked parkinsonism occurs in several European families.
Annals of neurology 2002;51(1):14-8.
2001: Valentina Scarano; Tiziana de Cristofaro; Giuseppe De Michele; Elena Salvatore; Irene De Biase; Antonella Monticelli; Alessandro Filla; Sergio Cocozza
Serum transferrin receptor levels in Friedreich's and other degenerative ataxias.
Neurology 2001;57(1):159-60.
2001: Fabrizio Barbieri; Maria Teresa Pellecchia; Erik Esposito; Emanuela Di Stasio; Imma Castaldo; Filippo M Santorelli; Anna Perretti; Lucio Santoro; Giuseppe De Michele
Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy.
Neurology 2001;56(10):1412-4.
2001: Carlo Colosimo; Nicola Vanacore; Vincenzo Bonifati; Giovanni Fabbrini; A Rum; Giuseppe De Michele; Michele De Mari; Ubaldo Bonuccelli; David Nicholl; Giuseppe Meco
Clinical diagnosis of multiple system atrophy: level of agreement between Quinn's criteria and the consensus conference guidelines.
Acta neurologica Scandinavica 2001;103(4):261-4.
2001: Magali Periquet; C Lücking; J Vaughan; Vincenzo Bonifati; Alexandra Dürr; Giuseppe De Michele; Martin Horstink; Matthew J Farrer; Sergei N Illarioshkin; Pierre Pollak; M Borg; C Brefel-Courbon; Patrice DENEFLE; Giuseppe Meco; Thomas Gasser; Monique Breteler; Nicholas W Wood; Yves Agid; Alexis Brice
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
American journal of human genetics 2001;68(3):617-26.
2001: Nicola Vanacore; Vincenzo Bonifati; Giovanni Fabbrini; Carlo Colosimo; Giuseppe De Michele; Roberto Marconi; David Nicholl; Nicoletta Locuratolo; G Talarico; Silvia Romano; Fabrizio Stocchi; Ubaldo Bonuccelli; Michele De Mari; Peter Vieregge; Giuseppe Meco
Epidemiology of multiple system atrophy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):97-9.
2001: Maria Teresa Pellecchia; Elena Salvatore; Rosario Pivonello; Antongiulio Faggiano; Paolo Barone; Giuseppe De Michele; Annamaria Colao; Alessandro Filla
Stimulation of growth hormone release in multiple system atrophy, Parkinson's disease and idiopathic cerebellar ataxia.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):79-80.
2001: Vincenzo Bonifati; Giuseppe De Michele; Christoph B Lücking; Alexandra Dürr; Edito Fabrizio; G Ambrosio; Nicola Vanacore; Michele De Mari; Roberto Marconi; L Capus; Monique Breteler; Thomas Gasser; Ben A Oostra; Nicholas W Wood; Yves Agid; Alessandro Filla; Giuseppe Meco; Alexis Brice
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):51-2.
2001: Nicola Vanacore; Vincenzo Bonifati; Carlo Colosimo; Giovanni Fabbrini; Giuseppe De Michele; Roberto Marconi; David Nicholl; Nicoletta Locuratolo; Silvia Romano; G Talarico; Fabrizio Stocchi; Ubaldo Bonuccelli; P Lamberti; Peter Vieregge; Giuseppe Meco
Epidemiology of progressive supranuclear palsy. ESGAP Consortium. European Study Group on Atypical Parkinsonisms.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2001;22(1):101-3.
2000: Alessandro Filla; Giuseppe De Michele; Giangennaro Coppola; A Federico; G Vita; A Toscano; A Uncini; P Pisanelli; Paolo Barone; Valentina Scarano; Anna Perretti; Lucio Santoro; Antonella Monticelli; F Cavalcanti; G Caruso; Sergio Cocozza
Accuracy of clinical diagnostic criteria for Friedreich's ataxia.
Movement disorders : official journal of the Movement Disorder Society 2000;15(6):1255-8.
2000: Cristiana Lo Nigro; Roberto Cusano; M Scaranari; Roberta Cinti; Paola Forabosco; V Brescia Morra; Giuseppe De Michele; L Santoro; S Davies; J Hurst; Marcella Devoto; Roberto Ravazzolo; Marco Seri
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
European journal of human genetics : EJHG 2000;8(10):777-82.
2000: Lucio Santoro; Anna Perretti; Bernardo Lanzillo; Giangennaro Coppola; G De Joanna; Fiore Manganelli; Sergio Cocozza; Giuseppe De Michele; Alessandro Filla; G Caruso
Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2000;111(6):1023-30.
2000: Christoph B Lücking; Alexandra Dürr; Vincenzo Bonifati; J Vaughan; Giuseppe De Michele; Thomas Gasser; Biswadjiet S Harhangi; Giuseppe Meco; Patrice DENEFLE; Nicholas W Wood; Yves Agid; Alexis Brice
Association between early-onset Parkinson's disease and mutations in the parkin gene.
The New England journal of medicine 2000;342(21):1560-7.
2000: Giuseppe De Michele; Alessandro Filla; F Cavalcanti; Angela Tammaro; Antonella Monticelli; Luigi Pianese; Francesco Di Salle; A Perreti; Lucio Santoro; G Caruso; Sergio Cocozza
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.
Neurology 2000;54(2):496-9.
2000: Nicola Vanacore; Vincenzo Bonifati; Giovanni Fabbrini; Carlo Colosimo; Roberto Marconi; David Nicholl; Ubaldo Bonuccelli; Fabrizio Stocchi; P Lamberti; Giampiero Volpe; Giuseppe De Michele; IVANO IAVARONE; P Bennett; Peter Vieregge; Giuseppe Meco
Smoking habits in multiple system atrophy and progressive supranuclear palsy. European Study Group on Atypical Parkinsonisms.
Neurology 2000;54(1):114-9.
2000: Alessandro Filla; Caterina Mariotti; G Caruso; Giangennaro Coppola; Sergio Cocozza; Imma Castaldo; O Calabrese; Elena Salvatore; Giuseppe De Michele; Marilisa Riggio; Davide Pareyson; Cinzia Gellera; Stefano Di Donato
Relative frequencies of CAG expansions in spinocerebellar ataxia and dentatorubropallidoluysian atrophy in 116 Italian families.
European neurology 2000;44(1):31-6.
1999: Maria Teresa Pellecchia; R Scala; Anna Perretti; Giuseppe De Michele; Lucio Santoro; Alessandro Filla; carolina ciacci; Paolo Barone
Cerebellar ataxia associated with subclinical celiac disease responding to gluten-free diet.
Neurology 1999;53(7):1606-8.
1999: Biswadjiet S Harhangi; Matthew J Farrer; Sarah J Lincoln; Vincenzo Bonifati; Giuseppe Meco; Giuseppe De Michele; Alexis Brice; Alexandra Dürr; M Martinez; Thomas Gasser; Benjamin Bereznai; Jenny R Vaughan; Nicholas W Wood; John Hardy; Ben A Oostra; Monique Breteler
The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.
Neuroscience letters 1999;270(1):1-4.
1999: Alessandro Filla; Giuseppe De Michele; Lucio Santoro; O Calabrese; Imma Castaldo; Salvatore Giuffrida; Domenico A Restivo; L Serlenga; Daniele F Condorelli; Ubaldo Bonuccelli; R Scala; Giangennaro Coppola; G Caruso; Sergio Cocozza
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families.
Journal of neurology 1999;246(6):467-71.
1999: Giangennaro Coppola; Giuseppe De Michele; F Cavalcanti; Luigi Pianese; Anna Perretti; Lucio Santoro; G Vita; A Toscano; Marianna Amboni; G Grimaldi; Elena Salvatore; G Caruso; Alessandro Filla
Why do some Friedreich's ataxia patients retain tendon reflexes? A clinical, neurophysiological and molecular study.
Journal of neurology 1999;246(5):353-7.
1999: Nacer Abbas; Christoph B Lücking; Sylvain Ricard; Alexandra Dürr; Vincenzo Bonifati; Giuseppe De Michele; S Bouley; Jenny R Vaughan; Thomas Gasser; Roberto Marconi; Emmanuel Broussolle; C Brefel-Courbon; Biswadjiet S Harhangi; Ben A Oostra; Edito Fabrizio; G A Böhme; Laurent Pradier; Nicholas W Wood; Alessandro Filla; Giuseppe Meco; Patrice DENEFLE; Yves Agid; Alexis Brice
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
Human molecular genetics 1999;8(4):567-74.
1999: Mireille Cossée; Alexandra Dürr; Martine Schmitt; Niklas Dahl; P Trouillas; P Allinson; M Kostrzewa; A Nivelon-Chevallier; Karl-Henrik Gustavson; Alfried Kohlschuetter; U Müller; Jean-Louis Mandel; Alexis Brice; Michel Koenig; F Cavalcanti; Angela Tammaro; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; M Labuda; L Montermini; J Poirier; Massimo Pandolfo
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.
Annals of neurology 1999;45(2):200-6.
1999: Marco Seri; Roberto Cusano; Paola Forabosco; Roberta Cinti; Francesco Caroli; Paolo Picco; R Bini; V Brescia Morra; Giuseppe De Michele; Margherita Lerone; Margherita Silengo; Ivana Pela; C Borrone; Giovanni Romeo; Marcella Devoto
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.
American journal of human genetics 1999;64(2):586-93.
1999: Lucio Santoro; Giuseppe De Michele; Anna Perretti; Claudio Crisci; Sergio Cocozza; F Cavalcanti; Michele Ragno; Antonella Monticelli; Alessandro Filla; G Caruso
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia.
Journal of neurology, neurosurgery, and psychiatry 1999;66(1):93-6.
1999: Maria Teresa Pellecchia; R Scala; Alessandro Filla; Giuseppe De Michele; carolina ciacci; Paolo Barone
Idiopathic cerebellar ataxia associated with celiac disease: lack of distinctive neurological features.
Journal of neurology, neurosurgery, and psychiatry 1999;66(1):32-5.
1998: Giuseppe De Michele; F Cavalcanti; Chiara Criscuolo; Luigi Pianese; Antonella Monticelli; Alessandro Filla; Sergio Cocozza
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
Human molecular genetics 1998;7(12):1901-6.
1998: Giuseppe De Michele; pier paolo mainenti; Andrea Soricelli; Francesco Di Salle; Elena Salvatore; M R Longobardi; Alfredo Postiglione; Marco Salvatore; Alessandro Filla
Cerebral blood flow in spinocerebellar degenerations: a single photon emission tomography study in 28 patients.
Journal of neurology 1998;245(9):603-8.
1998: J Vaughan; Alexandra Durr; JP Tassin; Benjamin Bereznai; Thomas Gasser; Vincenzo Bonifati; Giuseppe De Michele; Edito Fabrizio; Giampiero Volpe; O Bandmann; William G Johnson; Lawrence I Golbe; Monique Breteler; Giuseppe Meco; Yves Agid; Alexis Brice; CD Marsden; Nicholas W Wood
The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
Annals of neurology 1998;44(2):270-3.
1998: JP Tassin; Alexandra Dürr; T de Broucker; Nacer Abbas; Vincenzo Bonifati; Giuseppe De Michele; Anne-Marie Bonnet; Emmanuel Broussolle; Pierre Pollak; Marie Vidailhet; Michele De Mari; Roberto Marconi; S Medjbeur; Alessandro Filla; Giuseppe Meco; Yves Agid; Alexis Brice
Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics Study Group, and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
American journal of human genetics 1998;63(1):88-94.
1998: Giuseppe De Michele; Maurizio De Fusco; F Cavalcanti; Alessandro Filla; Roberto Marconi; Giampiero Volpe; Antonella Monticelli; Andrea Ballabio; Giorgio Casari; Sergio Cocozza
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
American journal of human genetics 1998;63(1):135-9.
1998: Giorgio Casari; Maurizio De Fusco; S Ciarmatori; M Zeviani; M Mora; P Fernandez; Giuseppe De Michele; Alessandro Filla; Sergio Cocozza; Roberto Marconi; Alexandra Dürr; B Fontaine; Andrea Ballabio
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
Cell 1998;93(6):973-83.
1998: Luigi Trojano; Laura Chiacchio; Dario Grossi; A I Pisacreta; O Calabrese; Imma Castaldo; Giuseppe De Michele; Alessandro Filla
Determinants of cognitive disorders in Autosomal Dominant Cerebellar Ataxia type 1.
Journal of the neurological sciences 1998;157(2):162-7.
1998: Giuseppe De Michele; Alessandro Filla; Chiara Criscuolo; Valentina Scarano; F Cavalcanti; Luigi Pianese; Antonella Monticelli; Sergio Cocozza
Determinants of onset age in Friedreich's ataxia.
Journal of neurology 1998;245(3):166-8.
1997: Michele Ragno; Giuseppe De Michele; F Cavalcanti; Luigi Pianese; Antonella Monticelli; L Curatola; F Bollettini; Sergio Cocozza; G Caruso; Lucio Santoro; Alessandro Filla
Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia.
Neurology 1997;49(6):1617-20.
1997: L Montermini; Eva Andermann; M Labuda; Andrea Richter; Massimo Pandolfo; F Cavalcanti; Luigi Pianese; L Iodice; G Farina; Antonella Monticelli; Mimmo Turano; Alessandro Filla; Giuseppe De Michele; Sergio Cocozza
The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.
Human molecular genetics 1997;6(8):1261-6.
1997: Sabatino Maione; Anna Giunta; Alessandro Filla; Giuseppe De Michele; Letizia Spinelli; G A Liucci; G Campanella; Mario Condorelli
May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia?
Clinical cardiology 1997;20(2):141-5.
1997: Luigi Pianese; F Cavalcanti; Giuseppe De Michele; Alessandro Filla; G Campanella; O Calabrese; Imma Castaldo; Antonella Monticelli; Sergio Cocozza
The effect of parental gender on the GAA dynamic mutation in the FRDA gene.
American journal of human genetics 1997;60(2):460-3.
1996: Giuseppe De Michele; Francesco Perrone; Alessandro Filla; E Mirante; M Giordano; Sabino De Placido; G Campanella
Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients.
Neurology 1996;47(5):1260-4.
1996: Alessandro Filla; Giuseppe De Michele; G Campanella; Anna Perretti; Lucio Santoro; L Serlenga; Michele Ragno; O Calabrese; Imma Castaldo; G De Joanna; Sergio Cocozza
Autosomal dominant cerebellar ataxia type I. Clinical and molecular study in 36 Italian families including a comparison between SCA1 and SCA2 phenotypes.
Journal of the neurological sciences 1996;142(1-2):140-7.
1996: Anna Perretti; Lucio Santoro; B Lanzillo; Alessandro Filla; Giuseppe De Michele; F Barbieri; G Martino; Michele Ragno; Sergio Cocozza; G Caruso
Autosomal dominant cerebellar ataxia type I: multimodal electrophysiological study and comparison between SCA1 and SCA2 patients.
Journal of the neurological sciences 1996;142(1-2):45-53.
1996: Alessandro Filla; Giuseppe De Michele; F Cavalcanti; Luigi Pianese; Antonella Monticelli; G Campanella; Sergio Cocozza
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.
American journal of human genetics 1996;59(3):554-60.
1996: V Campuzano; L Montermini; M D Moltò; Luigi Pianese; Mireille Cossée; F Cavalcanti; E Monros; F Rodius; F Duclos; Antonella Monticelli; F Zara; J Cañizares; Hana Koutnikova; Sanjay I Bidichandani; Cinzia Gellera; Alexis Brice; P Trouillas; Giuseppe De Michele; Alessandro Filla; Rosa de Frutos; Francesc Palau; Pragna I Patel; Stefano Di Donato; Jean-Louis Mandel; Sergio Cocozza; Michel Koenig; Massimo Pandolfo
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science (New York, N.Y.) 1996;271(5254):1423-7.
1996: Giuseppe De Michele; L Di Maio; Alessandro Filla; M Majello; Sergio Cocozza; F Cavalcanti; E Mirante; G Campanella
Childhood onset of Friedreich ataxia: a clinical and genetic study of 36 cases.
Neuropediatrics 1996;27(1):3-7.
1996: Giuseppe De Michele; Alessandro Filla; G Volpe; V De Marco; A Gogliettino; G Ambrosio; Roberto Marconi; A E Castellano; G Campanella
Environmental and genetic risk factors in Parkinson's disease: a case-control study in southern Italy.
Movement disorders : official journal of the Movement Disorder Society 1996;11(1):17-23.
1996: Giuseppe De Michele; Alessandro Filla; G Volpe; A Gogliettino; G Ambrosio; G Campanella
Etiology of Parkinson's disease. The role of environment and heredity.
Advances in neurology 1996;69():19-24.
1995: Giuseppe De Michele; Francesco Di Salle; Alessandro Filla; G D'Alessio; G Ambrosio; L Viscardi; R Scala; G Campanella
Magnetic resonance imaging in "typical" and "late onset" Friedreich's disease and early onset cerebellar ataxia with retained tendon reflexes.
Italian journal of neurological sciences 1995;16(5):303-8.
1995: Alessandro Filla; Giuseppe De Michele; S Banfi; Lucio Santoro; Anna Perretti; F Cavalcanti; Luigi Pianese; Imma Castaldo; F Barbieri; G Campanella
Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family.
Neurology 1995;45(4):793-6.
1995: Giuseppe De Michele; Alessandro Filla; Roberto Marconi; G Volpe; Angela D'Alessio; R Scala; G Ambrosio; G Campanella
A genetic study of Parkinson's disease.
Journal of neural transmission. Supplementum 1995;45():21-5.
1994: Giuseppe Orefice; V B Morra; Giuseppe De Michele; C Fusco; Guglielmo Borgia; R Cerini; F Barbieri
POEMS syndrome: clinical, pathological and immunological study of a case.
Neurological research 1994;16(6):477-80.
1994: Giuseppe De Michele; Alessandro Filla; F Cavalcanti; L Di Maio; Luigi Pianese; Imma Castaldo; O Calabrese; Antonella Monticelli; Stelio Varrone; G Campanella
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus.
Journal of neurology, neurosurgery, and psychiatry 1994;57(8):977-9.
1994: B Lanzillo; Anna Perretti; Lucio Santoro; Luciana Pelosi; Alessandro Filla; Giuseppe De Michele; G Caruso
Evoked potentials in inherited ataxias: a multimodal electrophysiological study.
Italian journal of neurological sciences 1994;15(1):25-37.
1994: Luigi Pianese; Sergio Cocozza; G Campanella; Imma Castaldo; F Cavalcanti; Giuseppe De Michele; Alessandro Filla; Antonella Monticelli; M Munaro; E Redolfi
Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian population.
Journal of medical genetics 1994;31(2):133-5.
1993: V Palma; L Sinisi; V Andreone; N Fazio; L L Serra; G Ambrosio; Giuseppe De Michele
Hindbrain hernia headache and syncope in type I Arnold-Chiari malformation.
Acta neurologica 1993;15(6):457-61.
1993: L Iorio; Giuseppe De Michele; Alessandro Filla; L Di Martino; Alfredo Postiglione; Lidia Patti; G Campanella
Serum lipoprotein fatty acid profile in hereditary ataxias.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1993;20(3):206-9.
1993: Giuseppe De Michele; M Presta; Francesco Di Salle; L Serra; A Mazzaccara; G Della Rocca; G Ambrosio; Alessandro Filla
Cerebellar vermis hypoplasia in a case of cri-du-chat syndrome.
Acta neurologica 1993;15(2):92-6.
1993: Giuseppe De Michele; Alessandro Filla; S Striano; M Rimoldi; G Campanella
Heterogeneous findings in four cases of cerebellar ataxia associated with hypogonadism (Holmes' type ataxia).
Clinical neurology and neurosurgery 1993;95(1):23-8.
1993: Alessandro Filla; Giuseppe De Michele; Giuseppe Orefice; F Santorelli; L Trombetta; S Banfi; F Squitieri; Giuliana Napolitano; D Puma; G Campanella
A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 1993;20(1):52-5.
1993: Sergio Cocozza; A Antonelli; G Campanella; F Cavalcanti; Giuseppe De Michele; Stefano Di Donato; Alessandro Filla; Antonella Monticelli; Luigi Pianese; A Piccinelli
Evidence of a genetic marker associated with early onset in Friedreich's ataxia.
Journal of neurology 1993;240(4):254-6.
1993: Giorgio Sirugo; Sergio Cocozza; Alexis Brice; F Cavalcanti; Giuseppe De Michele; I Dones; Alessandro Filla; Michel Koenig; D Lorenzetti; Antonella Monticelli
Linkage disequilibrium analysis of Friedreich's ataxia in 140 Caucasian families: positioning of the disease locus and evaluation of allelic heterogeneity.
European journal of human genetics : EJHG 1993;1(2):133-43.
1992: Lucio Santoro; Anna Perretti; Alessandro Filla; Giuseppe De Michele; B Lanzillo; F Barbieri; Claudio Crisci; P G Rippa; G Caruso
Is early onset cerebellar ataxia with retained tendon reflexes identifiable by electrophysiologic and histologic profile? A comparison with Friedreich's ataxia.
Journal of the neurological sciences 1992;113(1):43-9.
1992: F Cavalcanti; Sergio Cocozza; Alessandro Filla; Giuseppe De Michele; Luigi Pianese; Antonio Porcellini; Antonella Monticelli; Massimo Pandolfo; S Banfi; Stelio Varrone
Friedreich's disease. A linkage study in southern and central Italy.
Acta neurologica 1992;14(4-6):519-23.
1992: Alessandro Filla; Giuseppe De Michele; F Barbieri; G Campanella
Early onset hereditary ataxias of unknown etiology. Review of a personal series.
Acta neurologica 1992;14(4-6):420-30.
1992: G Campanella; Alessandro Filla; Giuseppe De Michele
Classifications of hereditary ataxias. A critical overview.
Acta neurologica 1992;14(4-6):408-19.
1992: Alessandro Filla; Giuseppe De Michele; Roberto Marconi; L Bucci; C Carillo; A E Castellano; L Iorio; C Kniahynicki; F Rossi; G Campanella
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy.
Journal of neurology 1992;239(6):351-3.
1991: Giuseppe De Michele; Alessandro Filla; N Coppola; A Bisogno; L Trombetta; F Santorelli; G Campanella
Influence of age, gender, height and education on vibration sense. A study by tuning fork in 192 normal subjects.
Journal of the neurological sciences 1991;105(2):155-8.
1991: Alessandro Filla; Giuseppe De Michele; F Cavalcanti; F Santorelli; Lucio Santoro; G Campanella
Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria.
Journal of neurology 1991;238(3):147-50.
1991: F Barbieri; Giuseppe De Michele; Lucio Santoro; R Santangelo; Michele Ragno
Chronic inflammatory demyelinating polyradiculoneuropathy. A clinical, electrophysiological and biopsy study.
Clinical neurology and neurosurgery 1991;93(2):99-106.
1990: Giuseppe De Michele; L Santoro; F Barbieri; V Brescia Morra; M Presta; Alessandro Filla
The distal type of hereditary motor neuropathy. Clinical and neurophysiological report of a dominant case.
Acta neurologica 1990;12(4):273-7.
1990: Alessandro Filla; Giuseppe De Michele; F Cavalcanti; Anna Perretti; Lucio Santoro; F Barbieri; G D'Arienzo; G Campanella
Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes.
Journal of neurology, neurosurgery, and psychiatry 1990;53(8):667-70.
1990: Lucio Santoro; Anna Perretti; Claudio Crisci; Michele Ragno; R Massini; Alessandro Filla; Giuseppe De Michele; G Caruso
Electrophysiological and histological follow-up study in 15 Friedreich's ataxia patients.
Muscle & nerve 1990;13(6):536-40.
1990: G Campanella; L Di Maio; A Mengano; F Squitieri; Giuseppe De Michele; Alessandro Filla
[An ambulatory regional center for extrapyramidal and cerebellar disorders. 10 years' experience in Campania].
Rivista di neurologia 1990;60(3):125-9.
1990: Giuseppe De Michele; Alessandro Filla; Francesco P D'Armiento; S Striano; F Barbieri; G Salvatore; V Di Carlo; D Mansi
Cerebellar ataxia and hypogonadism. A clinicopathological report.
Clinical neurology and neurosurgery 1990;92(1):67-70.
1989: Giuseppe De Michele; A Mengano; Alessandro Filla; L Trombetta; G Campanella
A double-blind, cross-over trial with madopar HBS in patients with Parkinson's disease.
Acta neurologica 1989;11(6):408-14.
1989: Alessandro Filla; Giuseppe De Michele; F P D'Armiento; Francesco Di Salle; Sossio Cirillo; Enrico Marano; L Chiacchio; A Rapuano; G A Buscaino
Steroid-induced disappearance of primary central nervous system lymphoma. Clinical, neuroradiological and pathological findings.
Acta neurologica 1989;11(6):400-7.
1989: V Palma; G Ambrosio; Giuseppe De Michele; D Mansi; L Trombetta; V Brescia Morra; Alessandro Filla
Electroretinographic findings in inherited ataxias.
Acta neurologica 1989;11(6):383-9.
1989: Giuseppe De Michele; Alessandro Filla; F Barbieri; Anna Perretti; Lucio Santoro; L Trombetta; F Santorelli; G Campanella
Late onset recessive ataxia with Friedreich's disease phenotype.
Journal of neurology, neurosurgery, and psychiatry 1989;52(12):1398-401.
1989: L Sinisi; Giuseppe De Michele; D Mansi; C Cocchiaro; U Cicerano; Alfredo Postiglione; G Campanella
Relationship of neurological and psychological signs to physical and metabolic risk factors in elderly persons living in retirement facilities: a multidisciplinary approach.
Functional neurology 1989;4(3):277-82.
1989: Alessandro Filla; Giuseppe De Michele; L Di Martino; A Mengano; L Iorio; M A Maggio; G Campanella
[Chronic experimentation with TRH administered intramuscularly in spinocerebellar degeneration. Double-blind cross-over study in 30 subjects].
Rivista di neurologia 1989;59(2):83-8.
1988: D Mansi; L Sinisi; Giuseppe De Michele; G Di Geronimo; V Palma; V Brescia Morra; N Coppola; G A Buscaino
Open trial of mesoglycan in the treatment of cerebrovascular ischemic disease.
Acta neurologica 1988;10(2):108-12.
1988: A Giunta; S Maione; R Biagini; Alessandro Filla; Giuseppe De Michele; G Campanella
Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich's ataxia.
Cardiology 1988;75(5):321-7.
1987: Giuseppe De Michele; Alessandro Filla; S Striano; L Iorio; B Merola; Michele De Rosa; G Lombardi; G Campanella
[Cerebellar ataxia and hypogonadism. Description of 4 cases].
Rivista di neurologia 1987;57(6):328-32.
1987: Giuseppe De Michele; Alessandro Filla; E Mansi; L Delehaye; Sossio Cirillo; G Di Geronimo; G Geri; G Campanella
[Computerized tomography in the study of degenerative ataxia].
Rivista di neurologia 1987;57(6):323-7.
1987: Giuseppe De Michele; Alessandro Filla; N Coppola; D Mansi; G A Buscaino
Extrapyramidal side-effects of flunarizine.
Acta neurologica 1987;9(3):230-3.
1986: F Barbieri; Giuseppe De Michele; Alessandro Filla; D Mansi; R Santangelo; Sossio Cirillo; Lucio Santoro
Clinical and CT-scan study of a case of cerebellar ataxia and progressive hearing loss: Lichtenstein-Knorr disease?
Acta neurologica 1986;8(3):159-63.
1986: Alessandro Filla; Giuseppe De Michele; V Brescia Morra; V Palma; A Di Lauro; G Di Geronimo; G Campanella
Glutamate dehydrogenase in human brain: regional distribution and properties.
Journal of neurochemistry 1986;46(2):422-4.
1985: Alessandro Filla; Giuseppe De Michele; V Palma; V Brescia Morra; G Di Geronimo; M Presta; G Vacchiano; L Iorio; G Campanella
Assay of succinate-cytochrome c reductase in human brain.
Acta neurologica 1985;7(6):510-5.
1985: Giuseppe De Michele; V Brescia Morra; N Pisanti; Umberto Giani; Alessandro Filla; L Sinisi; Domenico Capone; G Campanella
Carbamazepine serum levels in epileptics. Influence of age, sex, body weight and interaction with phenobarbital.
Acta neurologica 1985;7(3-4):228-34.
1984: L Di Maio; A Mengano; M A Maggio; Giuseppe De Michele; G Campanella
Paternal and maternal transmission in Huntington's disease.
Acta neurologica 1984;6(6):447-50.
1984: Alessandro Filla; Giuseppe De Michele; V Brescia Morra; V Palma; G Manfellotto; L Iorio; G Campanella
Regional distribution of glutamate dehydrogenase in rat brain.
Acta neurologica 1984;6(3):165-9.
1983: D Mansi; L Majello; V Palma; Giuseppe De Michele; G A Buscaino
Long-term trial (6 months) of the platelet aggregation inhibitory activity and biological safety of indobufen in cerebrovascular patients.
Acta neurologica 1983;5(6):447-55.
1983: D Mansi; Giuseppe De Michele; L Majello; F Barbieri; G A Buscaino
Stroke associated with mitral valve prolapse in a young woman. A case report.
Acta neurologica 1983;5(3):218-21.
1983: V Brescia Morra; V Palma; Giuseppe De Michele; L Pelosi; G Campanella; Alessandro Filla
Lipid composition of erythrocyte membranes in myotonic muscular dystrophy.
Acta neurologica 1983;5(3):180-3.
1980: Alessandro Filla; Alfredo Postiglione; Paolo Rubba; Lidia Patti; Giuseppe De Michele; V Palma; V Brescia Morra; G Campanella
Plasma lipoprotein concentration and erythrocyte membrane lipids in patients with Friedreich's ataxia.
Acta neurologica 1980;2(5):382-9.